Author

Jen Hauenstein

BioNano Genomics (United States)

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 3 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 4 Approach:experimental assay· 3 Research Focus:variant calling· 3 Assay:whole-genome sequencing· 3 Research Focus:benchmarking· 2 Approach:statistical model· 1

Frequent Co-Authors

Alex R. HastieiD· 4 shared Alka ChaubeyiD· 3 shared Andy Wing Chun PangiD· 2 shared Joey C. Estabrook· 2 shared Nikhil SahajpaliD· 2 shared Ravindra B KolheiD· 2 shared Alex ChitsazaniD· 1 shared Arthi Sridhar· 1 shared

Activity by Year

2022-2025 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 40 mutual co-author links

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4 shared papersGenetic & Genomic Medicine

Alex R. HastieORCID

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4 papers

Recent·Most cited

OMKar automates genome karyotyping using optical maps to identify constitutional abnormalities

Siavash R. Dehkordi, Zhaoyang Jia, Joey C. Estabrook, Jen Hauenstein, Neil R. Miller, Naz Güleray Lafcı, Jürgen Neesen, Alex R. Hastie, Alka Chaubey, Andy Wing Chun Pang, Paul Dremsek, Vineet Bafna

OMKar generates virtual karyotypes from optical genome mapping data to identify constitutional abnormalities with high precision and recall.

Genome Research · Dec 1, 2025Peer-reviewedGenetic & Genomic Medicine

Resolution of ring chromosomes, Robertsonian translocations, and complex structural variants from long-read sequencing and telomere-to-telomere assembly

Yulia Mostovoy, Philip M. Boone, Yongqing Huang, Kiran V. Garimella, Kar‐Tong Tan, Bianca E. Russell, Monica Salani, Celine E. F. de Esch, John M. Lemanski, Benjamin Currall, Jen Hauenstein, Diane E. Lucente, Tera Bowers, Tim DeSmet, Stacey Gabriel, , Michael E. Talkowski

This paper resolves ring chromosomes, Robertsonian translocations, and complex structural variants using long-read sequencing and telomere-to-telomere assembly, revealing breakpoint structures and methylation changes.

The American Journal of Human Genetics · Nov 8, 2024Peer-reviewedGenomics

Clinical Validation of Optical Genome Mapping for the Detection of Structural Variations in Hematological Malignancies

Andy Wing Chun Pang, Karena A. Kosco, Nikhil Sahajpal, Arthi Sridhar, Jen Hauenstein, Benjamin Clifford, Joey C. Estabrook, Alex Chitsazan, Trilochan Sahoo, M. Anwar Iqbal, Ravindra B Kolhe, Gordana Raca, Alex R. Hastie, Alka Chaubey

This study validates optical genome mapping (OGM) as a clinical test for detecting structural variations in hematological malignancies, showing high accuracy and sensitivity compared to standard-of-care methods.

medRxiv · Dec 27, 2022 · PreprintGenetic & Genomic Medicine

Optical Genome Mapping: Clinical Validation and Diagnostic Utility for Enhanced Cytogenomic Analysis of Hematological Neoplasms

Nikhil Sahajpal, Ashis Kumar Mondal, Tatiana Tvrdik, Jen Hauenstein, Huidong Shi, Kristin K. Deeb, Debra Saxe, Alex R. Hastie, Alka Chaubey, Natasha M. Savage, Vamsi K Kota, Ravindra B Kolhe

This study validates optical genome mapping (OGM) as a clinical tool for detecting structural variations in hematological neoplasms, showing high sensitivity and specificity compared to standard methods.

Journal of Molecular Diagnostics · Oct 17, 2022Peer-reviewedGenetic & Genomic Medicine